Heterozygous Deletion in Exons 4-5 of SHOX Gene in a Patient Diagnosed as Idiopathic Short Stature

Introduction: Isolated Short Stature Homeobox (SHOX) gene haploinsufficiency can be found in 2-15% of individuals diagnosed with idiopathic short stature determining different skeletal phenotypes.

Bibliographic Details
Main Authors: David Anna, Kun Imre Zoltán, Nyírő Gábor, Szántó Zsuzsánna, Patócs Attila
Format: Article
Language:English
Published: Sciendo 2017-09-01
Series:Acta Medica Marisiensis
Subjects:
Online Access:https://doi.org/10.1515/amma-2017-0028